Incidental Mutation 'IGL01574:Klhdc7b'
ID91197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc7b
Ensembl Gene ENSMUSG00000091680
Gene Namekelch domain containing 7B
SynonymsEG546648
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.285) question?
Stock #IGL01574
Quality Score
Status
Chromosome15
Chromosomal Location89384917-89388867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89387369 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 818 (V818A)
Ref Sequence ENSEMBL: ENSMUSP00000153286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109314] [ENSMUST00000166926] [ENSMUST00000167959] [ENSMUST00000225666]
Predicted Effect probably benign
Transcript: ENSMUST00000109314
SMART Domains Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938

DomainStartEndE-ValueType
Pfam:Synaptonemal_3 1 86 4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166926
AA Change: V160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: V160A

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
Kelch 366 416 1.04e-6 SMART
Kelch 417 461 4.9e-3 SMART
Kelch 462 504 4.18e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167959
SMART Domains Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938

DomainStartEndE-ValueType
Pfam:Synaptonemal_3 1 85 6.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225666
AA Change: V818A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,444,130 V487A possibly damaging Het
Ankrd26 T G 6: 118,539,698 T502P probably damaging Het
Apoa4 C A 9: 46,242,985 Q295K probably benign Het
Asxl3 T G 18: 22,523,564 C1544G probably benign Het
Ccl7 G A 11: 82,046,625 V62I probably damaging Het
Ceacam20 C A 7: 19,974,322 T284K possibly damaging Het
Ces4a A T 8: 105,145,227 probably benign Het
Col4a2 G T 8: 11,439,306 G1147V probably damaging Het
Gtf3c4 T C 2: 28,834,436 D428G possibly damaging Het
Itgb2 G A 10: 77,557,964 V413I possibly damaging Het
Itgb7 T G 15: 102,227,540 E20A possibly damaging Het
Kank2 C A 9: 21,794,604 G373W probably damaging Het
Kif1a T A 1: 93,082,340 I28F probably damaging Het
Klhl20 T C 1: 161,093,726 Y53C probably damaging Het
Mroh1 A G 15: 76,432,288 N772S probably benign Het
Mtmr4 C T 11: 87,600,647 T146I probably benign Het
Nup210 C T 6: 91,040,564 V1152I probably benign Het
Pclo T A 5: 14,713,448 D3978E unknown Het
Pkd1l3 T C 8: 109,623,771 L416P probably benign Het
Pkn2 T C 3: 142,839,231 M161V possibly damaging Het
Plxnb2 T C 15: 89,162,683 probably null Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Prss27 A T 17: 24,038,371 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Tmem30c T A 16: 57,276,742 I152F possibly damaging Het
Usp2 G A 9: 44,093,803 R378H probably damaging Het
Vmn2r106 A T 17: 20,268,310 I609N possibly damaging Het
Vmn2r51 T A 7: 10,102,454 E133D probably damaging Het
Zkscan3 A T 13: 21,394,091 probably benign Het
Other mutations in Klhdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02711:Klhdc7b APN 15 89388043 nonsense probably null
R0115:Klhdc7b UTSW 15 89388521 missense probably benign 0.05
R0718:Klhdc7b UTSW 15 89388169 missense possibly damaging 0.91
R0729:Klhdc7b UTSW 15 89387395 nonsense probably null
R0971:Klhdc7b UTSW 15 89387054 missense possibly damaging 0.79
R1794:Klhdc7b UTSW 15 89387020 missense probably benign 0.00
R1815:Klhdc7b UTSW 15 89387597 missense probably damaging 0.99
R1893:Klhdc7b UTSW 15 89387695 splice site probably null
R3508:Klhdc7b UTSW 15 89386892 start codon destroyed probably null 0.98
R3552:Klhdc7b UTSW 15 89387521 missense probably benign 0.02
R4001:Klhdc7b UTSW 15 89387984 missense probably damaging 1.00
R4618:Klhdc7b UTSW 15 89387269 missense probably benign 0.01
R4727:Klhdc7b UTSW 15 89387582 missense probably damaging 1.00
R5129:Klhdc7b UTSW 15 89388548 missense probably damaging 1.00
R5549:Klhdc7b UTSW 15 89387359 missense probably benign 0.01
R5643:Klhdc7b UTSW 15 89387659 missense possibly damaging 0.85
R5778:Klhdc7b UTSW 15 89387320 missense probably damaging 1.00
R5906:Klhdc7b UTSW 15 89387156 missense probably benign 0.02
R5942:Klhdc7b UTSW 15 89387431 missense probably benign 0.03
R6020:Klhdc7b UTSW 15 89388386 missense probably damaging 1.00
R6653:Klhdc7b UTSW 15 89387089 missense probably benign 0.00
R6810:Klhdc7b UTSW 15 89388356 missense possibly damaging 0.61
R7399:Klhdc7b UTSW 15 89388644 missense possibly damaging 0.78
R7548:Klhdc7b UTSW 15 89388704 missense probably damaging 0.96
R7640:Klhdc7b UTSW 15 89387260 missense possibly damaging 0.61
R8461:Klhdc7b UTSW 15 89387621 missense probably damaging 0.97
R8712:Klhdc7b UTSW 15 89386822 missense probably benign 0.07
R8890:Klhdc7b UTSW 15 89388685 missense probably benign 0.03
Posted On2013-12-09